2024年12月25日 · GNAI1 (G Protein Subunit Alpha I1) is a Protein Coding gene. Diseases associated with GNAI1 include Neurodevelopmental Disorder With Hypotonia, Impaired …

2024年8月1日 · GNAI1-related neurodevelopmental disorder (GNAI1-NDD) is characterized by mild-to-profound developmental delay and intellectual disability, hypotonia, neurobehavioral …

This collaboration establishes GNAI1 variants as a cause of NDDs. GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self …

Guanine nucleotide-binding protein G(i), alpha-1 subunit is a protein that in humans is encoded by the GNAI1 gene. [5] [6]

2021年1月20日 · We identified 16 unique variants in GNAI1 in 24 affected individuals; 23 occurred de novo and 1 was inherited from a mosaic parent. Most affected individuals have a severe …

Galphai1 is the primary target of microRNA-200a in mediating its anti-glioma cell activity. HL-60 neutrophil-like cells expressing Rap1a (G12V) or Radil have an elongated phenotype because …

2021年11月25日 · Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic …

2024年8月1日 · Clinical characteristics: GNAI1 -related neurodevelopmental disorder (GNAI1 -NDD) is characterized by mild-to-profound developmental delay and intellectual disability, …

2025年2月8日 · Gnai1 missense mutation is responsible of hyperpigmentation in mouse model. acidosis in inflamed tissues may be a decisive factor to regulate switching of PKA and …

GNAI1 and GNAI3 (GNAI1;3) double-knockout (DKO) mice developed more severe colitis after administration of DSS and significantly more colonic tumors than control mice after …